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Genomic Uniformed-Screening Against Rare Disease In All Newborns

Who can join

1 Day – 1 Month · All sexes · Healthy volunteers welcome

Inclusion Criteria:

* Newborns admitted to the well-baby nurseries from the recruiting hospitals
* Newborns born after 33 weeks of gestation
* Newborns whose parents are English, Mandarin, or Spanish speaking

About the study

The goal of this study is to learn how genomic sequencing technology can be used to effectively expand the conditions screened on newborn screening. Newborn screening ensures equity and allows all babies to have the same chance at the healthiest life. Families will be invited to have their newborn baby screened for additional conditions beyond what all babies are screened for as part of the newborn screening public health program. Families can choose to be part of the study or choose not to be part of the study and just have the routine newborn screening test. Families will also be able to choose to learn about their baby's risk for conditions that have effective treatments available but are not on the routine newborn screening panel or also learn about conditions for which there is not currently FDA approved medications but for which medications are under development or for which early intervention services or treatment of seizures may improve the child's outcome. Families will be invited to the study shortly after the baby is born and will learn the decision not to participate, and we will interview a subset of parents who agree to be interviewed. Newborns who screen positive will be referred to appropriate providers for care and will be followed through review of electronic medical records and parental follow up via phone, text, postal mail or email.

What is being tested

• Genome sequencing-based newborn screening (other)

Sponsor: Columbia University · Participants: 100,000 · Started: Sep 6, 2022

Contact the study team

• Anah Hetzler · Phone: 212-305-5508

Official record on ClinicalTrials.gov — NCT05990179

Locations in the U.S.

From ClinicalTrials.gov, data retrieved Sep 30, 2026. Each study sets its own eligibility; the study team decides who can join.